Results 71 to 80 of about 451,573 (269)

A new analysis tool for individual-level allele frequency for genomic studies

BMC Genomics, 2010
Background Allele frequency is one of the most important population indices and has been broadly applied to genetic/genomic studies. Estimation of allele frequency using genotypes is convenient but may lose data information and be sensitive to genotyping
Pan Wen-Harn, Li Ling-Hui, Huang Mei-Chu, Lin Hsin-Chi, Yang Hsin-Chou, Wu Jer-Yuarn, Chen Yuan-Tsong   +6 more
doaj   +1 more source

Asymptotics of the allele frequency spectrum associated with the Bolthausen-Sznitman coalescent [PDF]

arXiv, 2007
We work in the context of the infinitely many alleles model. The allelic partition associated with a coalescent process started from n individuals is obtained by placing mutations along the skeleton of the coalescent tree; for each individual, we trace back to the most recent mutation affecting it and group together individuals whose most recent ...
arxiv  

HDAC4 regulates apoptosis in Acan‐CreERT2;HDAC4d/d mice with osteoarthritis by downregulating ATF4

FEBS Open Bio, EarlyView.
Using the AcanCreERT2;HDAC4fl/fl genetic mouse model, we further investigated the role of histone deacetylase 4 (HDAC4) in chondrocyte apoptosis. We found that knocking down HDAC4 may be associated with chondrocyte apoptosis by upregulating the activating transcription factor 4 (ATF4)/CAAT/enhancer binding protein homologous (CHOP) signaling pathway ...
Jingrui Huang, Yukun Xu, Yujia Li, Yiming Pang, Xueting Ding, Raorao Zhou, Dan Liang, Xianda Che, Yuanyu Zhang, Chunfang Wang, Wenjin Li, Pengcui Li   +11 more
wiley   +1 more source

Evolutionary consequences of assortativeness in haploid genotypes [PDF]

arXiv, 2013
We study the evolution of allele frequencies in a large population where random mating is violated in a particular way that is related to recent works on speciation. Specifically, we consider non-random encounters in haploid organisms described by biallelic genes at two loci and assume that individuals whose alleles differ at both loci are incompatible.
arxiv  

Beyond digital twins: the role of foundation models in enhancing the interpretability of multiomics modalities in precision medicine

FEBS Open Bio, EarlyView.
This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi, Xin Gao, Takashi Gojobori   +2 more
wiley   +1 more source

Coexisting Stable Equilibria in a Multiple-allele Population Genetics Model [PDF]

arXiv, 2011
In this paper we find and classify all patterns for a single locus three- and four-allele population genetics models in continuous time. A pattern for a $k$-allele model means all coexisting locally stable equilibria with respect to the flow defined by the equations $\dot{p}_i = p_i(r_i-r), i=1,...,k,$ where $p_i, r_i$ are the frequency and marginal ...
arxiv  

Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population

FEBS Open Bio, EarlyView.
This study reports the upregulation of ELMO1 and GPR141 in human Fuchs' endothelial corneal dystrophy (FECD) corneal endothelium and ultraviolet A‐induced FECD mice model. A genetic association of an intergenic single nucleotide polymorphism rs918980 present between both genes is observed with FECD in the Indian population.
Susmita Sharma, Samar Kumar Basak, Sujata Das, Debasmita Pankaj Alone   +3 more
wiley   +1 more source

Comparative single‐cell transcriptomic profiling of patient‐derived renal carcinoma cells in cellular and animal models of kidney cancer

FEBS Open Bio, EarlyView.
We generated and characterized clear cell renal cell carcinoma models using the patient‐derived RCC243 cell line—including cell culture, orthotopic, and metastatic tumors—via single‐cell RNA‐sequencing for comparisons between models and patient tumor datasets.
Richard Huang, Lynn Kee, Alexander Gont, Jalna Meens, Fraser G. Ferens, Meredith S. Irwin, Laurie Ailles, Scott A. Yuzwa, Claire M. Robinson, Michael Ohh   +9 more
wiley   +1 more source

SNP allele frequency estimation in DNA pools and variance components analysis

BioTechniques, 2004
The estimation of single nucleotide polymorphism (SNP) allele frequency in pooled DNA samples has been proposed as a cost-effective approach to whole genome association studies.
Kate Downes, Bryan J. Barratt, Pelin Akan, Sue J. Bumpstead, Stacey D. Taylor, David G. Clayton, Panos Deloukas   +6 more
doaj   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

FEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik, Paulina Krzeminska, Anna Kurzynska‐Kokorniak   +2 more
wiley   +1 more source